Varaico: Literature-Extracted Genetic Variants

ITPR3

263 papers

RefSeq Summary

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ...

Pfam Domains

Ins145_P3_recaa 3–230UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 233–433UCSCMIR domain

RYDR_ITPRaa 473–670UCSCRIH domain

RYDR_ITPRaa 1175–1334UCSCRIH domain

RIH_assocaa 1865–1974UCSCRyR and IP3R Homology associated

Ion_transaa 2207–2528UCSCIon transport protein

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor type 3

HGNC Alias Symbol

IP3R3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002224.4

p.I871L

c.2611A>C

Surrounding Variants

1 paper

NM_002224.4

p.A867V

c.2600C>T

1 paper

NM_002224.4

p.S865R

c.2595C>A

1 paper

NM_002224.4

p.S865R

c.2595C>G

1 paper

NM_002224.4

p.S865I

c.2594G>T

1 paper

NM_002224.4

p.S865R

c.2593A>C

1 paper

NM_002224.4

p.V864D

c.2591T>A

1 paper

NM_002224.4

p.V863A

c.2588T>C

1 paper

NM_002224.4

p.S879R

c.2635A>C

1 paper

NM_002224.4

p.P898fs

c.2692_2693fs

1 paper

NM_002224.4

p.A904A

c.2712C>A

1 paper

NM_002224.4

p.E862Q

c.2584G>C

1 paper

NM_002224.4

p.T860P

c.2578A>C